MSH6 p.G289fs Reference Standard
CBP10444
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| Introduction | |
| Gene | MSH6 |
| Description | MSH6, mutS homolog 6, binds with Msh2 to form the MutS-alpha complex, which functions in initiation of the DNA mismatch repair system (PMID: 23391514) and is associated with microsatellite instability (MSI) (PMID: 30121009). Mutations in MSH6 are associated with susceptibility to colon cancer and endometrial cancer (PMID: 20028993), and germline MSH6 mutations are associated with Lynch (Hereditary Nonpolyposis Colorectal Cancer) syndrome (PMID: 15528792). |
| Technical Data | |
| DNA Change | c.868delC |
| AA Change | p.G289fs |
| Mutation type | Frame_Shift_Del |
| Zygosity | Heterozygous |
| Allelic Frequency | 50.00% |
| Transcript | ENST00000234420.5 |
| Cosmic ID | N/A |
| Chr position(GRCh37) | chr2:48025990 |
| Buffer | Tris-EDTA |
| Product Information | |
| Intended Use | Research Use Only |
| Unit Size | 1ug |
| Concentration | Download for COA |
| Purofication | Download for COA |
| DNA electrophoresis | Download for COA |
| Sanger sequencing |  |
| Storage | 4℃ |
| Expiry | 36 months from the date of manufacture |
